BETA-GLUCURONIDASE DEFICIENCY - REPORT OF CLINICAL, RADIOLOGIC, AND BIOCHEMICAL FEATURES OF A NEW MUCOPOLYSACCHARIDOSIS
BETA-GLUCURONIDASE DEFICIENCY - REPORT OF CLINICAL, RADIOLOGIC, AND BIOCHEMICAL FEATURES OF A NEW MUCOPOLYSACCHARIDOSIS
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DOI：
10.1016/s0022-3476(73)80162-3
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发表时间：
1973-01-01
影响因子：
5.1
通讯作者：
RIMOIN, DL
中科院分区：
文献类型：
--
作者：
SLY, WS;QUINTON, BA;RIMOIN, DL
临床，放射学和生化研究提出了一个以前未描述的粘多糖储存病的病人。临床特征包括身材矮小、肝脾肿大、胸部和脊柱进行性骨骼畸形、白细胞中的颗粒状内含物和频繁的有症状的肺部感染。在30个月大时，角膜混浊不存在。智力迟钝在2岁时不存在，但随后的发展滞后。多发性成骨不全的影像学改变累及颅骨、脊柱、肋骨、长管状骨和短管状骨。真菌溶血性尿症为轻度。对白色血细胞和皮肤成纤维细胞进行的酶研究显示，几乎不存在溶酶体水解酶β-D-葡萄糖醛酸酶。先证者的父母和他母亲的几个兄弟姐妹都有这种酶的水平降低，这表明一种常染色体隐性遗传。杂合子携带者的临床和放射学表现正常。
Clinical, radiologic, and biochemical studies are presented of a patient with a previously undescribed mucopolysaccharide storage disease. Clinical features include short stuature, hepaosplenomegaly, progressive skeletal deformities of the thorax and spine, granular inclusion in leukocytes, and frequent symptomatic pulmonary infections. Corneal clouding was not present at age 30 months. Mental retardation was not present at age 2 years, but subsequent development is lagging. Radiologic changes of “dysostosis multiplex” involved the skull, spine, ribs, and long and short tubular bones. Mycopolysacchariduria was mild. Enzyme studies on white blood cells and skin fibroblasts revealed virtual absence of the lysosomal hydrolase β-D-glucuronidase. Both parents of the proband and several of his mother's siblings had reduced levels of this enzyme, suggesting an autosomal recessive inheritance. The heterozygous carriers appear clinically and radiologically normal.